Canonical Allele Identifier: CA2580064416
Community Standard Title: NM_004525.3(LRP2):c.11868del (p.Trp3956CysfsTer27)
Gene: LRP2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169162492del , CM000664.2:g.169162492del GRCh38
NC_000002.11:g.170019002del , CM000664.1:g.170019002del GRCh37
NC_000002.10:g.169727248del NCBI36
NG_012634.1:g.205122del

Transcript Alleles

HGVS Amino-acid Change
NM_004525.3:c.11868del MANE Select NP_004516.2:p.Trp3956CysfsTer27
ENST00000649046.1:c.11868del MANE Select ENSP00000496870.1:p.Trp3956CysfsTer27
NM_004525.2:c.11868del NP_004516.2:p.Trp3956CysfsTer27
ENST00000263816.7:c.11868del ENSP00000263816.3:p.Trp3956CysfsTer27
ENST00000649153.1:c.2768del
ENST00000650252.1:c.900del ENSP00000496887.1:p.Trp300CysfsTer27
XM_011511183.1:c.11739del XP_011509485.1:p.Trp3913CysfsTer27
XM_011511183.3:c.11739del XP_011509485.1:p.Trp3913CysfsTer27
XM_011511184.1:c.9579del XP_011509486.1:p.Trp3193CysfsTer27
XM_011511184.2:c.9579del XP_011509486.1:p.Trp3193CysfsTer27
Search 100 bp 5'
Search 100 bp 3'